As France has moved in recent weeks to clear camps where migrants stay while trying to cross illegally into Britain, Médecins Sans Frontières has just opened a new one. Sophie Arie talks to Caroline Gollé, medical coordinator at the Médecins Sans Frontières​ La Linière camp​. Read more about the camp: http://www.bmj.com/content/352/bmj.i1696

The BMJ recently held a discussion between experts in the fields of general practice, emergency medicine, and paediatrics about the state of out of hours care in the UK, and crucially offered their vision for a better service. Are children a special case, can urgent care ‘hubs’ be a silver bullet, is NHS 111 up to the job of triaging patients,...

We do we know about the weekend effect? As Martin McKee puts it in an editorial on thebmj.com, "almost nothing is clear in this tangled tale" In this roundtable, Navjoyt Ladher, Analysis editor for The BMJ is joined by some of the key academics who have published research and commented on the weekend effect to make sense of what we know and...

In the UK, junk food advertising is banned on children’s TV - but manufactures are still able to target children in other ways.  A recent report from the WHO  "Tackling food marketing to children in a digital world", takes a look at the issue. In this podcast we're joined by João Breda, programme manager for nutrition physical activity and...

The BMJ publishes a variety of education articles, to help doctors improve their practice. Often authors join us in our podcast to give tips on putting their recommendations into practice. In this new monthly audio round-up The BMJ’s clinical editors discuss what they have learned, and how they may alter their practice. In our second audio...

Persistent physical symptoms are common and include those symptoms that last at least three months and are insufficiently explained by a medical condition after adequate examination and investigation. Observational studies in primary care report that women, especially those aged 35-45 years, more commonly present with these symptoms. In this...

The BMJ publishes a lot of educational articles, and in an attempt to help you with your CPD, we have put together this round-up. Our authors and editors will reflect on the key learning points in the articles we discuss, and explain how they may change their practice in light of that new understanding. In this week's round up we're...

It’s been called “the universal panacea” - exercise has a positive effect on almost all health measures, and governments are actively campaigning for us to do more. But at the opposite end of the scale, the realisation that some people may be addicted to exercise is gaining traction. In this podcast we're joined by Heather Hausenblas - professor...

The world bank was set up in 1944. In the aftermath of the second world war, the institution was there to give loans to countries rebuilding after the conflict. Their first loan went to France - but with stipulations about repayment that set a tone for future funds. A new series, authored by Devi Sridhar, and her team from the University of...

The world bank was set up in 1944. In the aftermath of the second world war, the institution was there to give loans to countries rebuilding after the conflict. Their first loan went to France - but with stipulations about repayment that set a tone for future funds. A new series, authored by Devi Sridhar, and her team from the University of...

Manflu, the phenomenon that men experience the symptoms of viral illness more than woman, is usually used with derision - but a new review, published in the Christmas edition, is asking - is there a plausible biological basis for this sex difference? Kyle Sue is a clinical assistant professor in family medicine at Memorial University of...

Winter pressures on NHS services have kicked in a little bit earlier than usual. So here to discuss that, and also the issue of how local NHS leaders can support staff in times of extreme pressure. Discussing that with Rebecca Coombes, The BMJ’s head of news and views, are Matthew Inada-Kim, a consultant in acute and general medicine at...

The BMJ publishes a variety of education articles, to help doctors improve their practice. Often authors join us in our podcast to give tips on putting their recommendations into practice. In this audio round-up The BMJ’s clinical editors discuss what they have learned, and how they may alter their practice. Kate Addlington, associate editor and...

Bobbie Farsides is professor of clinical and biomedical ethics at Brighton and Sussex Medical School. She’s been described as one of the few people that is acceptable to “both sides” of the assisted dying debate. This week she joins us to talk about the way in which the debate on euthanasia has played out in the UK - and hear why she thinks it’s...

Our latest debate asks, should doctors recommend acupuncture for pain? Asbjørn Hróbjartsson from the Center for Evidence-based Medicine at University of Southern Denmark argues no - evidence show's it's no worse than placebo. Mike Cummings, medical director of the British Medical Acupuncture Society argues yes - that there is evidence of efficacy,...

That’s Jo Shapiro is a surgeon and manager in Brigham and Women’s hospital, she’s also director of the Center for Professionalism and Peer Support, and has written an editorial for The BMJ on tackling unprofessional behaviour. In this discussion, she and I talked about what she thinks (beyond the illegal) are the most damaging behaviours seen...

In 2016, from an estimated pre-war population of 22 million, the United Nations (UN) identified 13.5 million Syrians requiring humanitarian assistance, of which more than 6 million are internally displaced within Syria, and around 5 million are refugees outside of Syria. In this podcast, Aula Abarra, consultant in infectious disease from London,...

Getting feedback from people who use NHS services is essential to assessing their value - and improving their quality. Hospitals and general practices widely post information about patient's satisfaction with their services on their websites, but approach tells us little about how feedback changes things on the ground . In this podcast, James...

Dyspareunia is a common but poorly understood problem affecting around 7.5% of sexually active women. It is an important and neglected area of female health, associated with substantial morbidity and distress. Women may be seen by several clinicians before a diagnosis is reached, There are also specialist psychosexual clinics, where men and women...

The number of people estimated to be latently infected with TB - that is infected with TB, which has not yet manifested symptoms - is around 2 billion. That is 1 in 3 people on the planet are infected by the bacteria. The World Health Organization’s website notes that on average 5-10% of those infected with TB will develop active TB. That number...

Ted Kaptchuk, professor of medicine at Harvard Medical school - and leading placebo researcher, has just published an analysis on bmj.com describing the effect of open label placebo - placebos that patient's know are placebos, but still seem to have some clinical effect. Ted joins us to speculate about what's going on in the body, what this means...

Recent years have seen political and social progress for people who identify as LGBT+ (lesbian, gay, bisexual, and transgender; the “+” indicating inclusion of other minority sexual and gender identities). Yet international evidence shows ongoing health and social inequalities in this group, many of which emerge during adolescence and represent...

Diabetes is synonymous with sugar, but diabetes insipidus, "water diabetes", can't be forgotten. Between 2009 and 2016, 4 people died in hospital in England, when lifesaving treatment for the condition was not given. In this podcast, we hear some practical tips for non-specialists to aid diagnosis, and how patients should be managed during...

It can be difficult to know what to do when a person in severe psychological distress presents to a general practice or community clinic, particularly if they are behaving aggressively, or if they are refusing help. Most patients who are acutely disturbed present no danger to others, however situations can evolve rapidly. Frontline staff need to...

On the 7th of June, 1753, Dr Archibald Cameron was executed at Tyburn. "The body, after hanging twenty minutes, was cut down: it was not quartered; but the heart was taken out and burnt. " 250 years later, his sixth great grandson, Robert Syned found himself deeply involved in the process of execution, as an expert witness in a case about the use...

An “author pays” publishing model is the only fair way to make biomedical research findings accessible to all, say David Sanders, professor of gastroenterology at Sheffield University, but James Ashton and worries that it can lead to bias in the evidence base towards commercially driven results - as those are the researchers who can pay for open...

Here's a taster for our new student podcast - Sharp Scratch. We're talking about the hidden curriculum, things you need to know to function as a doctor, but are rarely formally taught. This is a taster - if you enjoy, subscribe! https://podcasts.apple.com/gb/podcast/student-bmj-podcast/id331561304 Sharp Scratch episode 1: Surviving the night...

We’ve been banging the drum about transparency of payment to doctors for years - we’ve even put a moratorium on financial conflicts of interest in the authors of any of our education articles. Not because we think that all doctors who receive money from industry are being influenced to push their agenda - but because we have no way of telling when...

Hi impact, low probability events are a planners nightmare. You know that you need to think about them, but how can you prioritise which event - terrorist attack, natural disaster, disease outbreak, deserves attention - and how can you sell the risks of that, but not oversell them? Risky business is a conference where some of these kind of things...

Margaret Heffernan has thought a lot about whistleblowing, and why companies don't respond well to it. She wrote the "Book Wilful Blindness: Why We Ignore the Obvious at our Peril". In this podcast she talks about how culture, and groupthink, leads to a culture where whistleblowers are ignored, and why the NHS needs to change the way it treats...

The BMJ in partnership with The Harvard Global Health Institute has launched a collection of articles exploring how to achieve effective universal health coverage (UHC). The collection highlights the importance of quality in UHC, potential finance models, how best to incentivise stakeholders, and some of the barriers to true UHC. One of those...

On the 1st of May, 2018 Scotland was the first country to try a new way of reducing alcohol consumption in its population. It introduced a minimum unit prices for alcohol. Now new research just published on BMJ.com is looking at the effect of that price increase - and measuring how well it has achieved the goal of reducing drinking in...

Direct-to-consumer genetic tests are sold online and in shops as a way to “find out what your DNA says". They insights into ancestry or disease risks; others claim to provide information on personality, athletic ability, and child talent. However, interpretation of genetic data is complex and context dependent, and DTC genetic tests may produce...

In 2012, Eleni Linos, professor of dermatology at Stanford university, published a systematic review and meta-analysis of the link between non-melanoma cancer and sun-beds. That bit of pretty standard research, and a particular rapid response to it, has kicked of years of work - and in this podcast I talk to Eleni and her colleagues Stanton...

Last week the BMJ published it’s first special edition into Racism in Medicine. The issues tacked ranged from differential attainment in medical school, to the physiological effects that experiencing everyday discrimination has. The issue was guest edited by Victor Adebowale, the Chief Executive of the social care enterprise Turning Point, and...

This edition of talk evidence was recorded before the big increase in covid-19 infections in the UK, and then delayed by some self isolation. We'll be back with more evidence on the pandemic very soon. As always Duncan Jarvies is joined by Helen Macdonald (resting GP and editor at The BMJ) and Carl Heneghan (active GP, director of Oxford...

For the next few months Talk Evidence is going to focus on the new corona virus pandemic. There is an enormous amount of uncertainty about the disease, what the symptoms are, fatality rate, treatment options, things we shouldn't be doing. We're going to try to get away from the headlines and talk about what we need to know - to hopefully give...

How can we help frontline clinicians? Sometimes medics may feel uneasy or even guilty and that they could be doing more. That was what a junior doctor in Abergavenny in Wales felt and she did something about it. In this podcast, we speak to Josie Cheetham about how she started her initiative to provide support boxes in hospitals for her...

Cindy J.M. Loomans
Jan 1, 2004; 53:195-199
Complications

Thomas A. Buchanan
Sep 1, 2002; 51:2796-2803
Pathophysiology

Steven E Kahn
Nov 1, 1993; 42:1663-1672
Original Article

David E. Kelley
Oct 1, 2002; 51:2944-2950
Metabolism and Signal Transduction

Michael Brownlee
Jun 1, 2005; 54:1615-1625
Banting Lecture 2004

Lipodystrophies are a group of disorders characterized by absence or loss of adipose tissue and abnormal fat distribution, commonly accompanied by metabolic dysregulation. Although considered rare disorders, their prevalence in the general population is not well understood. We aimed to evaluate the clinical and genetic prevalence of lipodystrophy disorders in a large clinical care cohort. We interrogated the electronic health record (EHR) information of >1.3 million adults from the Geisinger Health System for lipodystrophy diagnostic codes. We estimate a clinical prevalence of disease of 1 in 20,000 individuals. We performed genetic analyses in individuals with available genomic data to identify variants associated with inherited lipodystrophies and examined their EHR for comorbidities associated with lipodystrophy. We identified 16 individuals carrying the p.R482Q pathogenic variant in LMNA associated with Dunnigan familial partial lipodystrophy. Four had a clinical diagnosis of lipodystrophy, whereas the remaining had no documented clinical diagnosis despite having accompanying metabolic abnormalities. We observed a lipodystrophy-associated variant carrier frequency of 1 in 3,082 individuals in our cohort with substantial burden of metabolic dysregulation. We estimate a genetic prevalence of disease of ~1 in 7,000 in the general population. Partial lipodystrophy is an underdiagnosed condition. and its prevalence, as defined molecularly, is higher than previously reported. Genetically guided stratification of patients with common metabolic disorders, like diabetes and dyslipidemia, is an important step toward precision medicine.

Permanent neonatal diabetes mellitus (PNDM) is caused by reduced β-cell number or impaired β-cell function. Understanding of the genetic basis of this disorder highlights fundamental β-cell mechanisms. We performed trio genome sequencing for 44 patients with PNDM and their unaffected parents to identify causative de novo variants. Replication studies were performed in 188 patients diagnosed with diabetes before 2 years of age without a genetic diagnosis. EIF2B1 (encoding the eIF2B complex α subunit) was the only gene with novel de novo variants (all missense) in at least three patients. Replication studies identified two further patients with de novo EIF2B1 variants. In addition to having diabetes, four of five patients had hepatitis-like episodes in childhood. The EIF2B1 de novo mutations were found to map to the same protein surface. We propose that these variants render the eIF2B complex insensitive to eIF2 phosphorylation, which occurs under stress conditions and triggers expression of stress response genes. Failure of eIF2B to sense eIF2 phosphorylation likely leads to unregulated unfolded protein response and cell death. Our results establish de novo EIF2B1 mutations as a novel cause of permanent diabetes and liver dysfunction. These findings confirm the importance of cell stress regulation for β-cells and highlight EIF2B1’s fundamental role within this pathway.

It was not the landing the Jamaicans who arrived at Kingston’s Norman Manley International Airport on Wednesday evening would want again. The 43 Jamaican ship workers of the Marella Discovery 2 were among the 115 people aboard the TUI charter flight that touched down amid the Kingston breeze and evening sunset.

DOVER, St Mary: Residents of Epsom and Dover in St Mary are on edge, but have accepted quarantine measures imposed by the Government to curtail the spread of the dreaded coronavirus in that parish. Security checkpoints at both ends of the parish...

The wet weather last Saturday (May 2) could not dampen the spirits of award-winning gospel artiste and ordained evangelist Kevin Downswell as he ventured into the St Catherine community of Central Village, where he spent some of his formative years...

Director of the Pan American Health Organization (PAHO), Carissa Etienne, today urged for vaccination programmes to continue during the COVID-19 pandemic. “If we fall behind on routine immunisations, particularly for children, we risk...

OLIEVENHOUTBOS, South Africa (AP) — Thousands of people stood in line for hours on Saturday in a South African township waiting for handouts of food. The scene has repeated for days in one of the world’s most unequal countries as...